Hereditary spastic paraplegia with novel SPG11 mutation from India: expanding the genotypic spectrum

Abstract Background Hereditary Spastic Paraplegia with Thin Corpus Callosum (HSP-TCC) linked to SPG11 mutations represents a significant subtype of complex HSP. While numerous SPG11 variants have been reported globally, the genetic spectrum continues to expand, particularly in underrepresented popul...

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Κύριος συγγραφέας:	Abhishek Dixit
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	SpringerOpen 2025-09-01
Σειρά:	Egyptian Journal of Medical Human Genetics
Θέματα:	Hereditary spastic paraplegia SPG11 mutation Thin corpus callosum Spatacsin Neurodegenerative disorder
Διαθέσιμο Online:	https://doi.org/10.1186/s43042-025-00784-7
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